InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: EDN3

Summary

InnateDB Gene

IDBG-83422.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EDN3

Gene Name

endothelin 3

Synonyms

ET-3; ET3; HSCR4; PPET3; WS4B

Species

Homo sapiens

Ensembl Gene

ENSG00000124205

Encoded Proteins

IDBP-83424

endothelin 3

IDBP-83426

endothelin 3

IDBP-83428

endothelin 3

IDBP-83430

endothelin 3

IDBP-239115

endothelin 3

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 20:59300427-59325992

Strand

Forward strand

Band

q13.32

Transcripts

ENST00000337938	ENSP00000337128
ENST00000371025	ENSP00000360064
ENST00000371028	ENSP00000360067
ENST00000311585	ENSP00000311854
ENST00000395654	ENSP00000379015

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005179	hormone activity

Biological Process

GO:0001755	neural crest cell migration
GO:0002690	positive regulation of leukocyte chemotaxis
GO:0003100	regulation of systemic arterial blood pressure by endothelin
GO:0007165	signal transduction
GO:0007166	cell surface receptor signaling pathway
GO:0007267	cell-cell signaling
GO:0007275	multicellular organismal development
GO:0008015	blood circulation
GO:0008284	positive regulation of cell proliferation
GO:0010460	positive regulation of heart rate
GO:0014826	vein smooth muscle contraction
GO:0019229	regulation of vasoconstriction
GO:0030072	peptide hormone secretion
GO:0030182	neuron differentiation
GO:0030318	melanocyte differentiation
GO:0030334	regulation of cell migration
GO:0030593	neutrophil chemotaxis
GO:0042310	vasoconstriction
GO:0043406	positive regulation of MAP kinase activity
GO:0045840	positive regulation of mitosis
GO:0046887	positive regulation of hormone secretion
GO:0048016	inositol phosphate-mediated signaling
GO:0048070	regulation of developmental pigmentation